苯丙酮尿症的分子生物学 - Suppr

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超能文献

Molecular biology of phenylketonuria.

作者信息

Güttler F, DiLella A G, Ledley F D, Lidsky A S, Kvok S C, Marvit J, Woo S L

机构信息

John F. Kennedy Institute, Glostrup, Denmark.

出版信息

Eur J Pediatr. 1987;146 Suppl 1:A5-11. doi: 10.1007/BF00442048.

DOI:10.1007/BF00442048

PMID:2891509

Abstract

摘要

相似文献

Molecular biology of phenylketonuria.苯丙酮尿症的分子生物学

Eur J Pediatr. 1987;146 Suppl 1:A5-11. doi: 10.1007/BF00442048.

[Phenylketonuria].[苯丙酮尿症]

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Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus and their relation to phenotype in Swedish phenylketonuria families.瑞典苯丙酮尿症家庭中苯丙氨酸羟化酶基因座的多态性DNA单倍型及其与表型的关系。

Hum Genet. 1991 May;87(1):11-7. doi: 10.1007/BF01213084.

Correlation between polymorphic DNA haplotypes at phenylalanine hydroxylase locus and clinical phenotypes of phenylketonuria.苯丙氨酸羟化酶基因座多态性DNA单倍型与苯丙酮尿症临床表型的相关性

J Pediatr. 1987 Jan;110(1):68-71. doi: 10.1016/s0022-3476(87)80290-1.

Haplotype analysis of classical and mild phenotype of phenylketonuria in the German Democratic Republic.德意志民主共和国苯丙酮尿症经典型和轻型表型的单倍型分析。

Clin Genet. 1988 Sep;34(3):176-80. doi: 10.1111/j.1399-0004.1988.tb02859.x.

Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria.波兰苯丙酮尿症家庭中苯丙氨酸羟化酶等位基因的单倍型分析。

Acta Biochim Pol. 1989;36(3-4):323-32.

Molecular basis of phenylketonuria and potential somatic gene therapy.苯丙酮尿症的分子基础及潜在的体细胞基因治疗

Cold Spring Harb Symp Quant Biol. 1986;51 Pt 1:395-401. doi: 10.1101/sqb.1986.051.01.047.

[Genetic diagnosis in classical phenylketonuria].[经典型苯丙酮尿症的基因诊断]

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Molecular basis and population genetics of phenylketonuria.

Biochemistry. 1989 Jan 10;28(1):1-7. doi: 10.1021/bi00427a001.

Phenylketonuria. Population genetics of a disease.苯丙酮尿症。一种疾病的群体遗传学。

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引用本文的文献

The influence of mutations of enzyme activity and phenylalanine tolerance in phenylalanine hydroxylase deficiency.苯丙氨酸羟化酶缺乏症中酶活性突变和苯丙氨酸耐受性的影响。

Eur J Pediatr. 1996 Jul;155 Suppl 1:S6-10. doi: 10.1007/pl00014253.

Mouse models of human phenylketonuria.人类苯丙酮尿症的小鼠模型

Genetics. 1993 Aug;134(4):1205-10. doi: 10.1093/genetics/134.4.1205.

Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany.在德意志联邦共和国人群中直接检测导致苯丙酮尿症的一种主要突变。

Eur J Pediatr. 1989 Nov;149(2):120-3. doi: 10.1007/BF01995861.

RFLPs of the phenylalanine hydroxylase gene in the Italian population.意大利人群中苯丙氨酸羟化酶基因的限制性片段长度多态性

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Study design and description of patients.研究设计与患者描述。

Eur J Pediatr. 1990;149 Suppl 1:S5-12. doi: 10.1007/BF02126292.

Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.意大利苯丙氨酸羟化酶基因座的单倍型分布及分子缺陷

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The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.苯丙酮尿症基因座：不同人群中苯丙氨酸羟化酶基因的等位基因和突变的现有知识。

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Molecular analysis of PKU haplotypes in the population of southern Poland.波兰南部人群中苯丙酮尿症单倍型的分子分析。

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The codon 408 mutation associated with haplotype 2 is predominant in Polish families with phenylketonuria.与单倍型2相关的密码子408突变在波兰苯丙酮尿症家庭中占主导地位。

Hum Genet. 1991 Jan;86(3):247-50. doi: 10.1007/BF00202402.

本文引用的文献

Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.人类苯丙氨酸羟化酶基因座的广泛限制性酶切位点多态性及其在苯丙酮尿症产前诊断中的应用。

Am J Hum Genet. 1985 Jul;37(4):619-34.

Hyperphenylalaninemia: diagnosis and classification of the various types of phenylalanine hydroxylase deficiency in childhood.高苯丙氨酸血症：儿童期各种类型苯丙氨酸羟化酶缺乏症的诊断与分类

Acta Paediatr Scand Suppl. 1980;280:1-80.

Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.从大鼠肝脏中对苯丙氨酸羟化酶信使核糖核酸进行多核糖体免疫沉淀及其互补脱氧核糖核酸的克隆。

Proc Natl Acad Sci U S A. 1982 Aug;79(15):4701-5. doi: 10.1073/pnas.79.15.4701.

Quantification of the close association between DNA haplotypes and specific beta-thalassaemia mutations in Mediterraneans.地中海人群中DNA单倍型与特定β地中海贫血突变之间紧密关联的定量分析。

Nature. 1984;310(5973):152-4. doi: 10.1038/310152a0.

The PKU locus in man is on chromosome 12.人类的苯丙酮尿症基因座位于12号染色体上。

Am J Hum Genet. 1984 May;36(3):527-33.

Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.克隆的人类苯丙氨酸羟化酶基因可用于经典型苯丙酮尿症的产前诊断和携带者检测。

Nature. 1983;306(5939):151-5. doi: 10.1038/306151a0.

Heterogeneity in genetic control of phenylalanine metabolism in man.人类苯丙氨酸代谢遗传控制的异质性。

Nature. 1968 May 18;218(5142):677-8. doi: 10.1038/218677a0.

The isolation and properties of phenylalanine hydroxylase from human liver.人肝脏苯丙氨酸羟化酶的分离及其性质

Biochem J. 1974 Jun;139(3):741-9. doi: 10.1042/bj1390741.

Gene transfer and expression of human phenylalanine hydroxylase.人苯丙氨酸羟化酶的基因转移与表达

Science. 1985 Apr 5;228(4695):77-9. doi: 10.1126/science.3856322.

Molecular analysis of the inheritance of phenylketonuria and mild hyperphenylalaninemia in families with both disorders.患有苯丙酮尿症和轻度高苯丙氨酸血症的家庭中这两种疾病遗传的分子分析。

N Engl J Med. 1986 May 15;314(20):1276-80. doi: 10.1056/NEJM198605153142002.

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